Genetics Home Reference: autosomal recessive congenital stationary night blindness

Source: NLM General Announcements - Category: Databases & Libraries Source Type: news

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Publication date: Available online 14 November 2019Source: Regulatory Toxicology and PharmacologyAuthor(s): Girish K. Srivastava, Cristina Andrés-Iglesias, Rosa M. Coco, Ivan Fernandez-Bueno, Jesús Medina, Juan García-Serna, Antonio Dueñas, Fernando Rull, J. Carlos PastorAbstractPerfluorocarbon liquids (PFCLs) have been considered safe for intraocular manipulation of the retina, but since 2013 many cases of acute eye toxicity cousing blindness have been reported in various countries when using various commercial PFCLs. All these PFCLs were CE marked (Conformité Européenne), which m...
Source: Regulatory Toxicology and Pharmacology - Category: Toxicology Source Type: research
This report also examines disparities, by state and race/ethnicity, in receipt of eye exams. Nationally, 54.1% of beneficiaries with diabetes had an eye exam in 2017. Prevalence ranged from 43.9% in Puerto Rico to 64.8% in Rhode Island. Fewer than 50% of beneficiaries received an eye exam in seven states (Alabama, Alaska, Kentucky, Louisiana, Nevada, West Virginia, and Wyoming) and Puerto Rico. Non-Hispanic white (white) beneficiaries had a higher prevalence of receiving an eye exam (55.6%) than did non-Hispanic blacks (blacks) (48.9%) and Hispanics (48.2%). Barriers to receiving eye care (e.g., suboptimal clinical care co...
Source: MMWR Morb Mortal Wkl... - Category: Epidemiology Authors: Tags: MMWR Morb Mortal Wkly Rep Source Type: research
Conclusions: Based on the initial user testing, the proposed system has successfully fulfilled most of the users' need.Implication for RehabilitationVisual impairment is a disability more commonly caused by diseases that lead to several disadvantages amongst those blind.The white cane has been seen as the most reliable tool for the visual impaired.This tool could be further improved with the integration of additional sensors that works with today's mobile devices.The proposed system, InWalker, is able to improve the overall quality of life among people who are blind through several features: obstacle detection, GPS trackin...
Source: Disability and Rehabilitation. Assistive Technology. - Category: Rehabilitation Authors: Tags: Disabil Rehabil Assist Technol Source Type: research
(University of Southern California) A new economic study, published in JAMA Ophthalmology and conducted by USC researchers at the Schaeffer Center for Health Policy&Economics, the Ginsburg Institute for Biomedical Therapeutics, and the Roski Eye Institute, quantifies the benefits of treatment for wAMD.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Trachoma is the leading infectious cause of blindness globally. The WHO has recommended the SAFE (Surgery, Antibiotics, Facial cleanliness and Environmental improvements) strategy to eliminate trachoma as a pu...
Source: Parasites and Vectors - Category: Microbiology Authors: Tags: Research Source Type: research
Fungal Keratitis (FK) is an infective keratopathy with extremely high blindness rate. The damaging effect of this disease is not only the destruction of corneal tissue during fungal infection, but also the cor...
Source: BMC Ophthalmology - Category: Opthalmology Authors: Tags: Research article Source Type: research
We report the first three Japanese patients with missense variants in the GNB1 gene. Patients exhibited severe dyskinetic quadriplegia with cortical blindness and epileptic spasms, West syndrome (but with good outcomes), and hypotonic quadriplegia that later developed into spastic diplegia. Whole-exome sequencing revealed two recurrent GNB1 variants (p.Leu95Pro and p.Ile80Thr) and one novel variant (p.Ser74Leu). A recent investigation revealed large numbers of patients with GNB1 variants. Functional studies of such variants and genotype –phenotype correlation are required to enable future precision medicine.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research
AbstractSince introducing optical coherence tomography (OCT) technology for 2D eye imaging, it has become one of the most important and widely used imaging modalities for the noninvasive assessment of retinal eye diseases. Age-related macular degeneration (AMD) and diabetic macular edema eye disease are the leading causes of blindness being diagnosed using OCT. Recently, by developing machine learning and deep learning techniques, the classification of eye retina diseases using OCT images has become quite a challenge. In this paper, a novel automated convolutional neural network (CNN) architecture for a multiclass classifi...
Source: Medical and Biological Engineering and Computing - Category: Biomedical Engineering Source Type: research
ConclusionEcological and socio-economical determinants play critical role in the magnitude and causes of blindness and visual impairment in Saudi Arabia. Significant data gaps obscure monitoring and evaluation of the eye health. Eye health indicators should be integrated into the national health information system for dynamic monitoring and evaluation.
Source: Saudi Journal of Ophthalmology - Category: Opthalmology Source Type: research
Abstract Myopia is an increasingly common condition that is associated with significant costs to individuals and society. Moreover, myopia is associated with increased risk of glaucoma, retinal detachment and myopic maculopathy, which in turn can lead to blindness. It is now well established that spending more time outdoors during childhood lowers the risk of developing myopia and may delay progression of myopia. There has been great interest in further exploring this relationship and exploiting it as a public health intervention aimed at preventing myopia in children. However, spending more time outdoors can have...
Source: The British Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Br J Ophthalmol Source Type: research
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